Publications

Found 1969 results
2020
De Lazzari F, Sandrelli F, Whitworth AJ & Bisaglia M (2020) Antioxidant Therapy in Parkinson’s Disease: Insights from Drosophila melanogaster. Antioxidants 9, 52
Cortese A, Tozza S, Yau WYan, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laura M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Zuchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H & Reilly MM (2020) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAbstract. Brain 143, 480 - 490
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Bergh FThen, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez ERodríguez, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MCarolina, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain ALópez, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM & Holstege H (2020) Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol
Bugiardini E, Bottani E, Marchet S, Poole OV, Benincá C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG & Pitceathly RDS (2020) Expanding the molecular and phenotypic spectrum of truncating mutations. Neurol Genet 6, e381
Bacman SR, Gammage PA, Minczuk M & Moraes CT (2020) Methods in Cell BiologyManipulation of mitochondrial genes and mtDNA heteroplasmy, Elsevier
Coppa A, Guha S, Fourcade S, Parameswaran J, Ruiz M, Moser AB, Schlüter A, Murphy MP, Lizcano JMiguel, Miranda-Vizuete A, Dalfó E & Pujol A (2020) The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. Free Radic Biol Med
Walker JE, Carroll J & He J (2020) Reply to Bernardi: The mitochondrial permeability transition pore and the ATP synthase. Proc Natl Acad Sci U S A
Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter K-D & Jacobs HT (2020) Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia. J Cell Mol Med
Protasoni M, Pérez-Pérez R, Lobo-Jarne T, Harbour ME, Ding S, Peñas A, Diaz F, Moraes CT, Fearnley IM, Zeviani M, Ugalde C & Fernandez-Vizarra E (2020) Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV. EMBO J, e102817
Lee JJ, Andreazza S & Whitworth AJ (2020) The STING pathway does not contribute to behavioural or mitochondrial phenotypes in Drosophila Pink1/parkin or mtDNA mutator models. Sci Rep 10, 2693
Powell CA & Minczuk M (2020) TRMT2B is responsible for both tRNA and rRNA mU-methylation in human mitochondria. RNA Biol, 1-12
2019
Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E & Zeviani M (2019) APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. EMBO Mol Med 11
Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M & Hudson G (2019) Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 46, 302-306
Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F & Moore AL (2019) Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET. Biochim Biophys Acta Bioenerg, 148137
Viscomi C & Zeviani M (2019) Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!. Cell Metabolism 30, 628 - 629
Hirst J, Kunji ERS & Walker JE (2019) Comment on "Protein assemblies ejected directly from native membranes yield complexes for mass spectrometry". Science 366
Tufi R, Gleeson TP, von Stockum S, Hewitt VL, Lee JJ, Terriente-Felix A, Sanchez-Martinez A, Ziviani E & Whitworth AJ (2019) Comprehensive Genetic Characterization of Mitochondrial Ca Uniporter Components Reveals Their Different Physiological Requirements In Vivo. Cell Rep 27, 1541-1550.e5
Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS & Horvath R (2019) Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet Med
Kohlhauer M, Pell VR, Burger N, Spiroski AM, Gruszczyk A, Mulvey JF, Mottahedin A, Costa ASH, Frezza C, Ghaleh B, Murphy MP, Tissier R & Krieg T (2019) Correction to: Protection against cardiac ischemia-reperfusion injury by hypothermia and by inhibition of succinate accumulation and oxidation is additive. Basic Res Cardiol 114, 24
Ryan DG, Murphy MP, Frezza C, Prag HA, Chouchani ET, O'Neill LA & Mills EL (2019) Coupling Krebs cycle metabolites to signalling in immunity and cancer. Nat Metab 1, 16-33
Sobti M, Ishmukhametov R, Bouwer JC, Ayer A, Suarna C, Smith NJ, Christie M, Stocker R, Duncan TM & Stewart AG (2019) Cryo-EM reveals distinct conformations of ATP synthase on exposure to ATP. Elife 8
Gu J, Zhang L, Zong S, Guo R, Liu T, Yi J, Wang P, Zhuo W & Yang M (2019) Cryo-EM structure of the mammalian ATP synthase tetramer bound with inhibitory protein IF1. Science 364, 1068-1075
Chinnery PF & Prudent J (2019) De-fusing mitochondria defuses the mtDNA time-bomb. Cell Res
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJavier, M Donati A, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, M Sardina D, Del Vayo CÁlvarez, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C & Hirano M (2019) Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol
Lau GY, Barts N, Hartley RC, Tobler M, Richards JG, Murphy MP & Arndt S (2019) Detection of changes in mitochondrial hydrogen sulfide in the fish model (Poeciliidae). Biol Open 8

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